Results 141 to 150 of about 157,517 (293)

Preliminary Localization of a Gene for Autosomal Dominant Hypoparathyroidism to Chromosome 3ql3 [PDF]

, 1994
David N. Finegold, M.M. Armitage, Mae Galiani, Tara C. Matise, M.R. Pandian, Y.M. Perry, Ranjan Deka, Robert E Ferrell   +7 more
openalex   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP) [PDF]

, 1992
Keiko Fujiki, Yoshihiro Hotta, Mutsuko Hayakawa, Hitoshi Sakuma, Takeshi Shiono, Michiru Noro, Takehiko Sakuma, Makoto Tamai, Kazumasa Hikiji, Ryuji Kawaguchi, Akihiko Hoshi, Akira Nakajima, Atsushi Kanai   +12 more
openalex   +1 more source

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

Epilepsia Open, EarlyView.
Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Giulia Barcia, Nicole Chemaly, Stéphanie Gobin‐Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante‐Bordeneuve, Marie Hully, Remi Barrois, Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun, Monika Eisermann, Cécile Fourrage, Sylvain Hanein, Marlène Rio, Nathalie Boddaert, Isabelle Desguerre, Anna Kaminska, Julie Steffann, Rima Nabbout   +21 more
wiley   +1 more source

Autosomal dominant myopathy caused by a novel <i>ISCU</i> variant. [PDF]

Front Genet
Rusecka JM, Ceccatelli Berti C, Szczęśniak D, Bednarska-Makaruk M, Mroczek M, Kacprzak MM, Sobczyńska-Tomaszewska A, Goffrini P.   +7 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. [PDF]

, 1990
Stanley Hawkins, N. C. Nevin, A E Harding   +2 more
openalex   +1 more source

Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome. [PDF]

Case Rep Med
Peterpalaniswami KM, Madhavan K, Mathew GG, Jayaprakash V.   +3 more
europepmc   +1 more source

Autosomal dominant polycystic kidney disease. [PDF]

, 1993
John C. Lieske, F. Gary Toback
openalex   +1 more source

Novel Pathogenic Variant in Exon 31 of the TSC2 Gene Associated With a Severe Phenotype of Tuberous Sclerosis

Annals of the Child Neurology Society, EarlyView.
Tabitha D'souza, Laura Davids, Prabhumallikarjun Patil   +2 more
wiley   +1 more source